[Application of spectral karyotyping in diagnosis and prenatal diagnosis of the marker chromosome].
OBJECTIVE
To determine the value of spectral karyotyping(SKY) in identification of the marker chromosome.


METHODS
Selected six cases that could not be identified in clinic were studied, using samples of peripheral blood from four cases, and samples of amonic fluid and fetal cord blood for prenatal diagnosis in two cases were investigated. All cases were analyzed with the routine SKY method, and the results with the SKY View software. The SKY results were identified by using fluorescence in situ hybridization (FISH). And C-banding technique was used to help diagnose the heterochromatin.


RESULTS
SKY was successfully performed on all of 6 cases. The origin of all marker chromosomes was identified by SKY. Except case No. 4, the others were confirmed by FISH. It helped determine the pregnancy outcome in two cases of prenatal diagnosis: one case of genetic marker chromosome continued the pregnancy, and another case of de novo marker chromosome was terminated of the pregnancy.


CONCLUSIONS
SKY may be a valuable tool to diagnose the marker chromosome with rapidness,direct-viewing and sensitiveness. It can be used to assess the prognosis and the pregnancy outcome.
Liao
Can
C
Institute of Eugenics and Perinatology, Women and Children's Hospital of Guangzhou, Guangzhou 510180, China. canliao@hotmail.com
Pan
Min
M
Li
Dong-Zhi
DZ
Yi
Cui-Xing
CX
Hu
Shun-Yan
SY
Yuan
Si-Min
SM
Wu
Shao-Qing
SQ
D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002877:Chromosomes, Human / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D032681:Spectral Karyotyping / Q000379:methods*
D005819:Genetic Markers